DisGeNET - a database of gene-disease associations

rs72646846, TTN;TTN-AS1

N. diseases: 4

Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

CausalMutation

CLINVAR

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

25589632

2015

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

CausalMutation

CLINVAR

Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.

24119082

2013

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

0.700

CausalMutation

CLINVAR

Truncations of titin causing dilated cardiomyopathy.

22335739

2012